Ehlers-danlos syndrome, classic type, 2

Preferred Label : Ehlers-danlos syndrome, classic type, 2;

Symbol : EDSCL2;

CISMeF acronym : EDSCL2; EDS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Eds II; Ehlers-danlos syndrome, type II; Ehlers danlos syndrome, mild classic type; Ehlers danlos syndrome, mitis type; EDS2;

Description : The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility (Beighton, 1993). In the Villefranche classification of EDS (Beighton et al., 1998), 6 main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and EDS II), hypermobility type (EDS III, 130020), vascular type (EDS IV, 130050), kyphoscoliosis type (EDS VI, 225400), arthrochalasia type (EDS VIIA and VIIB, 130060), and dermatosparaxis type (EDS VIIC, 225410). Six other forms were listed, including a category of 'unspecified forms.' Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. The main features of classic Ehlers-Danlos syndrome (EDS I and EDS II) are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the type V collagen, alpha-2 gene (COL5A2, 120190.0001);

Prefixed ID : #130010;

Details

Origin ID

130010;

UMLS CUI

C0268336;

Automatic exact mappings (from CISMeF team)
- COL5A2 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Classical Ehlers-Danlos syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Ehlers Danlos syndrome type II [Disease (Nov.)]
- Ehlers-Danlos Syndrome, Type II [NCIt concept]
- Ehlers-Danlos syndrome classic type 2 [DO Concept]
- Ehlers-Danlos syndrome type 2 [ICD-11 More detail]
- Ehlers-Danlos syndrome type 2 [MeSH concept]
- Ehlers-Danlos syndrome type 2 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 2 [ORDO Disease]
- Ehlers-Danlos syndrome, type 2 (disorder) [SNOMED CT concept]
- ehlers-danlos syndrome, type 2 [SNOMED Notion]
DO Cross reference
- Ehlers-Danlos syndrome classic type 2 [DO Concept]
False automatic mappings
- Energy Dispersive Spectroscopy [NCIt concept]
Genes related to phenotype
- Collagen, type V, alpha-2 [OMIM gene]
HPO term(s)
- Atrophic scars [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Cigarette-paper scars [HPO term]
- Congenital hip dislocation [HPO term]
- Epicanthus [HPO term]
- Fragile skin [HPO term]
- Generalized joint laxity [HPO term]
- Hemoptysis [HPO term]
- Hernia [HPO term]
- Hyperextensible skin [HPO term]
- Joint hypermobility [HPO term]
- Molluscoid pseudotumors [HPO term]
- Recurrent joint dislocation [HPO term]
- Recurrent sinusitis [HPO term]
- Soft skin [HPO term]
- Soft, doughy skin [HPO term]
- Subcutaneous spheroids [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Classical Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-Danlos syndrome type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ehlers Danlos syndrome type II [Disease (Nov.)]
- Ehlers-Danlos Syndrome, Type II [NCIt concept]
- Ehlers-Danlos syndrome type 2 [ORDO Disease]
- Ehlers-Danlos syndrome type 2 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 2 [MeSH concept]
- Ehlers-Danlos syndrome, type 2 (disorder) [SNOMED CT concept]
- ehlers-danlos syndrome, type 2 [SNOMED Notion]
Validated automatic mappings to NTBT
- Classical Ehlers-Danlos syndrome [ORDO Disease]

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